Chromosome Anomalies

Common Name(s)

Chromosome Anomalies

Chromosomal anomalies refer to any error in either the number or structure of one's chromosomes. Although some chromosomal anomalies can be inherited, most are not passed from one generation to the next. They usually occur due to an error during the process of the egg or sperm being made (meiosis). If the cell containing an error in it is involved in fertilization, then the child will develop with that chromosomal anomaly in all of his or her cells. Humans normally have 46 chromosomes, which come in 23 pairs, one set from the mother, the other from the father. If a chromosomal anomaly is numerical, then the individual will have either fewer or greater than the correct number of chromosomes. The most common types of numerical chromosomal anomalies are monosomies and trisomies. A monosomy is when a person is missing one chromosome from one pair, so they have 45 total chromosomes instead of 46. For example, in Turner syndrome, a child is born with one X chromosome instead of two X's or an X and a Y chromosome. If someone has a trisomy, then the individual has an extra copy of one chromosome, so 3 copies instead of two. This results in a person having a total of 47 chromosomes instead of 46. Down syndrome, also called trisomy 21, is a condition that results from having three copies of chromosome 21 and a total of 47 total chromosomes.

Chromosomal anomalies can also result from structural errors. This can occur in many different ways including a deletion, duplication, translocation, inversion, and rings. All cause a harmful gain, loss or rearrangement of DNA and involve multiple genes. These anomalies and the conditions that result from them are complex and many times exact expectations and prognosis is not possible due to variation. A genetic counselor can help determine risks to future children or generations and provide a better understanding of how these anomalies occur.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Chromosome Anomalies" for support, advocacy or research.

Trisomy 18 Foundation

The Trisomy 18 Foundation (T18F) is the leading national organization devoted exclusively to improving outcomes for Trisomy 18 families in the United States. Committed to the support of medical research in finding effective treatments and preventions for Trisomy 18. The T18F also educates patient families and physicians about prevention, diagnosis and the treatment of Trisomy 18. The T18F is an active advocate for the Trisomy 18 community, helping to raise awareness of this disease and the need for treatments. The T18F's website is the premier source for educating the public about Trisomy 18 and impacted families..

Last Updated: 24 Jul 2015

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Unique - Understanding Chromosome Disorders

Our mission is to inform, support and alleviate the isolation of anyone affected by a rare chromosome disorder and to raise public awareness.

Last Updated: 4 Mar 2015

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Chromosome Disorder Outreach, Inc.

Our mission is to provide support to parents of children born with rare chromosome disorders, to gather & disseminate information, & to promote research & a positive community understanding of these disorders.

Last Updated: 2 Nov 2012

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The Arc of East Central Iowa

The Arc of East Central Iowa empowers people with intellectual and related disabilities to engage in lifelong opportunities to live, learn, work and play with dignity, freedom and full inclusion in their communities.

Last Updated: 11 Apr 2013

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Chromosome Anomalies" for support, advocacy or research.

Trisomy 18 Foundation

The Trisomy 18 Foundation (T18F) is the leading national organization devoted exclusively to improving outcomes for Trisomy 18 families in the United States. Committed to the support of medical research in finding effective treatments and preventions for Trisomy 18. The T18F also educates patient families and physicians about prevention, diagnosis and the treatment of Trisomy 18. The T18F is an active advocate for the Trisomy 18 community, helping to raise awareness of this disease and the need for treatments. The T18F's website is the premier source for educating the public about Trisomy 18 and impacted families..

http://www.trisomy18.org

Last Updated: 24 Jul 2015

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Unique - Understanding Chromosome Disorders

Our mission is to inform, support and alleviate the isolation of anyone affected by a rare chromosome disorder and to raise public awareness.

http://www.rarechromo.org

Last Updated: 4 Mar 2015

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Chromosome Disorder Outreach, Inc.

Our mission is to provide support to parents of children born with rare chromosome disorders, to gather & disseminate information, & to promote research & a positive community understanding of these disorders.

http://www.chromodisorder.org

Last Updated: 2 Nov 2012

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The Arc of East Central Iowa

The Arc of East Central Iowa empowers people with intellectual and related disabilities to engage in lifelong opportunities to live, learn, work and play with dignity, freedom and full inclusion in their communities.

http://www.arceci.org

Last Updated: 11 Apr 2013

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General Support Organizations

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General Resources

Little Yellow Book

A parents guide to rare chromosome disorders

Updated 4 Mar 2013

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Trisomy 18 Foundation Facebook Page

Over 43,000 Fans (as of 12/23/14) connecting with T18F news and updates and establishing peer connections to share information about Trisomy 18 and the children they love impacted with Trisomy 18.

Uploaded By: Trisomy 18 Foundation

Updated 23 Dec 2014

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Great NonProfits Top Rated NonProfit 2015

Based on public reviews by people served by the Foundation, the Foundation is again awarded a 2015 Top NonProfit Award by Great NonProfits associated with Guidestar. The Foundation was also awarded this same award in 2014, 2013 and 2012.

Uploaded By: Trisomy 18 Foundation

Updated 24 Jul 2015

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Chromosome Anomalies" returned 55 free, full-text research articles on human participants. First 3 results:

De novo chromosome 7q36.1q36.2 triplication in a child with developmental delay, growth failure, distinctive facial features, and multiple congenital anomalies: a case report.
 

Author(s): Muna A Al Dhaibani, Diane Allingham-Hawkins, Ayman W El-Hattab

Journal:

 

Studying human genome using chromosomal microarrays has significantly improved the accuracy and yield of diagnosing genomic disorders. Chromosome 7q36 deletions and duplications are rare genomic disorders that have been reported in a limited number of children with developmental delay, ...

Last Updated: 31 Dec 1969

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Opposite chromosome constitutions due to a familial translocation t(1;21)(q43;q22) in 2 cousins with development delay and congenital anomalies: A case report.
 

Author(s): Beata Aleksiūnienė, Rugilė Matulevičiūtė, Aušra Matulevičienė, Birutė Burnytė, Natalija Krasovskaja, Laima Ambrozaitytė, Violeta Mikštienė, Vaidas Dirsė, Algirdas Utkus, Vaidutis Kučinskas

Journal: Medicine (Baltimore). 2017 Apr;96(16):e6521.

 

Chromosomal rearrangements are the major cause of multiple congenital abnormalities and intellectual disability.

Last Updated: 31 Dec 1969

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An 18.3-Mb Duplication on Chromosome 14q With Multiple Cardiac Anomalies and Clubfoot Was Identified by Microarray Analysis.
 

Author(s): Jihoon G Yoon, Saeam Shin, Jo Won Jung, Seung-Tae Lee, Jong Rak Choi

Journal: Ann Lab Med. 2016 Mar;36(2):194-6.

 

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Chromosome Anomalies" returned 5 free, full-text review articles on human participants. First 3 results:

De novo ring chromosome 6 in a child with multiple congenital anomalies.
 

Author(s): Hadi Ahmad Ahzad, Siti Fatimah Ramli, Tan May Loong, Iman Salahshourifar, Bin Alwi Zilfalil, Narazah Mohd Yusoff

Journal:

 

Ring chromosome 6, especially if it is de novo, is a rare occurrence. The phenotype of patients with ring chromosome 6 can be highly variable ranging from almost normal to severe malformations and mental retardation. The size and structure of the ring chromosome as well as the level ...

Last Updated: 31 Dec 1969

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ICF, an immunodeficiency syndrome: DNA methyltransferase 3B involvement, chromosome anomalies, and gene dysregulation.
 

Author(s): Melanie Ehrlich, Cecilia Sanchez, Chunbo Shao, Rie Nishiyama, John Kehrl, Rork Kuick, Takeo Kubota, Samir M Hanash

Journal: Autoimmunity. 2008 May;41(4):253-71.

 

The immunodeficiency, centromeric region instability, and facial anomalies syndrome (ICF) is the only disease known to result from a mutated DNA methyltransferase gene, namely, DNMT3B. Characteristic of this recessive disease are decreases in serum immunoglobulins despite the presence ...

Last Updated: 31 Dec 1969

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[Choroid plexus cysts and risks of chromosome anomalies. Review of the literature and proposed management].
 

Author(s): E Denis, P Dufour, A S Valat, P Vaast, D Subtil, P Bourgeot, F Puech

Journal: J Gynecol Obstet Biol Reprod (Paris). 1998 Mar;27(2):144-9.

 

We propose to specify the different criteria of estimation and management in presence of a ultrasound discovery of a choroid plexus cyst.

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Prenatal Screening, Diagnosis and Intrauterine Intervention of Fetal Abnormal Chromosome and Structure in Twins Pregnancy
 

Status: Not yet recruiting

Condition Summary: Chromosome Abnormality; Twin Pregnancy With Antenatal Problem

 

Last Updated: 2 Dec 2016

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Risk-stratified Therapy Based on Molecular Cytogenetic Aberration and Treatment Response in AML
 

Status: Recruiting

Condition Summary: Risk-directed Therapy; Cytogenetic Abnormality; Molecular Abnormality; MRD

 

Last Updated: 8 Oct 2018

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Comparison of Karyotyping, CMA and NIPT for Prenatal Diagnosing Chromosomal Anomalies
 

Status: Recruiting

Condition Summary: Prenatal Diagnosis

 

Last Updated: 28 Jun 2017

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